We present an isolated complete left hemihypertrophy in a girl with follow-up data from birth up to the age of 5 months.
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J Clin Ultrasound
October 2024
Gynecology and Obstetrics Unit, Department of Public Health, School of Medicine, University of Naples Federico II, Naples, Italy.
Klippel-Trénaunay-Weber syndrome (KTW) is a rare congenital disease, representing a challenge in prenatal diagnosis due to overlapping characteristics with other syndromes and no specific genetic markers known to date. We have collected all the cases present in the literature on the prenatal diagnosis of KTW, emphasizing common ultrasound findings that can guide the clinician and genetics to the prenatal counseling. Thus, we collected all the information about the postnatal prognosis and the necessity for treatment.
View Article and Find Full Text PDFHeliyon
July 2024
Department of Otorhinolaryngology Head and Neck Surgery, Yantai Yuhuangding Hospital, Shandong University, China.
Background: Hemihypertrophy (HH) is a rare congenital malformation usually recognized at birth. It is often diagnosed due to impaired aesthetics and mobility caused by asymmetry of the face, body, or limbs. Some patients are diagnosed due to the presence of tumors and mental abnormalities.
View Article and Find Full Text PDFJ Pediatr
November 2024
Pediatric Clinical Genetics Unit, Regina Margherita Childrens' Hospital, Torino, Italy; Department of Pediatric and Public Health Sciences, University of Torino, Torino, Italy. Electronic address:
Objective: To demonstrate a high-yield molecular diagnostic workflow for lateralized overgrowth (LO), a congenital condition with abnormal enlargement of body parts, and to classify it by molecular genetics.
Study Design: We categorized 186 retrospective cases of LO diagnosed between 2003 and 2023 into suspected Beckwith-Wiedemann spectrum, PIK3CA-related overgrowth spectrum (PROS), vascular overgrowth, or isolated LO, based on initial clinical assessments, to determine the appropriate first-tier molecular tests and tissue for analysis. Patients underwent testing for 11p15 epigenetic abnormalities or somatic variants in genes related to PI3K/AKT/mTOR, vascular proliferation, and RAS-MAPK cascades using blood or skin DNA.
Front Pediatr
January 2024
Department of Radiology, MacKay Memorial Hospital, Taipei City, Taiwan.
Background: Klippel-Trénaunay syndrome, a kind of congenital limb-length-discrepancy disorder, is commonly associated with a variety of vascular anomalies.
Case Presentation: We present the case of a three-day-old newborn with a profound abdominal mass lesion during prenatal magnetic resonance imaging (MRI) examination. After delivery, physical examination revealed mild hemihypertrophy of the left lower extremity and red lesions on the left thigh.
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